COX7A1

cytochrome c oxidase subunit 7A1, the group of Mitochondrial complex IV: cytochrome c oxidase subunits

Basic information

Region (hg38): 19:36150922-36152449

Previous symbols: [ "COX7A" ]

Links

ENSG00000161281NCBI:1346OMIM:123995HGNC:2287Uniprot:P24310AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the COX7A1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COX7A1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
8
clinvar
8
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 8 0 0

Variants in COX7A1

This is a list of pathogenic ClinVar variants found in the COX7A1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-36150993-G-A not specified Uncertain significance (Feb 27, 2024)3076482
19-36151488-C-T not specified Uncertain significance (Aug 09, 2021)2347684
19-36151517-C-A not specified Uncertain significance (Jul 06, 2021)2384310
19-36151546-C-T not specified Uncertain significance (Jan 23, 2024)3076481
19-36151672-G-T not specified Uncertain significance (Jun 13, 2024)3269056
19-36151689-C-T not specified Uncertain significance (Jul 26, 2022)2303163
19-36151719-C-A not specified Uncertain significance (Oct 27, 2022)2321314
19-36152394-C-A not specified Uncertain significance (Feb 11, 2025)2336612
19-36152398-G-A not specified Uncertain significance (Dec 31, 2024)3835721
19-36152398-G-T not specified Uncertain significance (Jan 25, 2025)3835720

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
COX7A1protein_codingprotein_codingENST00000292907 41948
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00003730.223125700091257090.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5493949.90.7810.00000330496
Missense in Polyphen1419.3830.72228210
Synonymous1.111420.40.6880.00000125149
Loss of Function-0.53264.751.262.55e-747

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009670.0000967
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003110.0000264
Middle Eastern0.000.00
South Asian0.0001010.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.;
Pathway
Cardiac muscle contraction - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Electron Transport Chain (Consensus)

Recessive Scores

pRec
0.127

Intolerance Scores

loftool
0.756
rvis_EVS
-0.01
rvis_percentile_EVS
52.85

Haploinsufficiency Scores

pHI
0.125
hipred
N
hipred_score
0.213
ghis
0.481

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0628

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cox7a1
Phenotype
cellular phenotype; muscle phenotype; vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype;

Gene ontology

Biological process
regulation of oxidative phosphorylation;generation of precursor metabolites and energy;electron transport chain;mitochondrial respirasome assembly;proton transmembrane transport
Cellular component
mitochondrion;mitochondrial respirasome;integral component of membrane
Molecular function
cytochrome-c oxidase activity